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SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH
(OMIM ID: #607250 )

Known also as: SCAN1


an autosomal recessive form of spinocerebellar ataxia with axonal neuropathy (SCAN1) can be caused by homozygosity for a mutation in the tyrosyl-DNA phosphodiesterase-1 gene (TDP1).
Hereditary ataxia such ataxia and the spinocerebellar ataxias are frequently associated with peripheral neuropathy. An autosomal dominant form of spinocerebellar ataxia with sensory axonal neuropathy was described in a Utah family and found to be linked to 16q22.1. To characterize further the co-occurrence of neuropathy and ataxia, It was investigated that a large Saudi Arabian family that tested negative for mutations in most genes known to be associated with ataxia and neuropathy, but segregated an autosomal recessive ataxia with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, and pes cavus and steppage gait as seen in Charcot-Marie-Tooth (CMT) neuropathy. Detailed evaluation of 3 of the 9 affected individuals confirmed that they had cerebellar ataxia and axonal neuropathy, a combination designated SCAN1. One of these 3 individuals had a history of seizures, and the 2 others showed mild brain atrophy by MRI analysis. All 3 individuals had mild hypercholesterolemia and borderline hypoalbuminemia. All affected individuals had normal intelligence.


DNA repair proteins related with SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH (#607250 ) disease:
Following keywords are related to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH :

Last modification of this entry: Oct. 11, 2010.

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